Jake Ternent has been gradually losing his central vision since birth, because of a rare inherited genetic eye condition. And, despite the pandemic, 2020 was a landmark year for the 24-year-old, from County Durham, who became the first person in the UK to receive a revolutionary new gene therapy on the NHS.
His condition – leber congenital amaurosis (LCA) – is caused by having two faulty copies of a gene called RPE65, which is essential for maintaining healthy photoreceptor cells in the retina. In 2019 the NHS agreed to fund the treatment, Luxturna, the first in a new generation of gene therapies for conditions causing blindness. It costs about £600,000 per patient to treat both eyes, though the NHS has agreed a confidential discount with the makers Novartis.
How the therapy works
https://www.bbc.com/news/health-56906002
The injection delivers working copies of a faulty gene, RPE65, into the retina at the back of the eye. The DNA is encased in a harmless virus which breaks into the retinal cells. Once inside the nucleus, the replacement gene kick-starts production of the RPE65 protein essential for healthy vision.
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Making a real difference’
Prof James Bainbridge, Jake’s surgeon at Moorfields, says the results from the first patients are encouraging. “It’s fantastic to see these people reporting improvements even weeks after the surgery. It is making a real difference to their lives, and the hope is that these benefits will last for many years or even their lifetime.” And he says it offers potential for other conditions. “Until quite recently we’ve had very little to offer people with inherited blindness, but this is really transformational. It provides an opportunity to provide hope for people not only with this specific condition, but people with other similar disorders, that they can protect their sight in the long term.
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